Jurgen Del‐Favero
A5040603856- Genetic Associations and Epidemiology
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Bipolar Disorder and Treatment
- Stress Responses and Cortisol
- Genetic Neurodegenerative Diseases
- Congenital heart defects research
- Hormonal Regulation and Hypertension
- Autism Spectrum Disorder Research
- Cancer Genomics and Diagnostics
- Neurotransmitter Receptor Influence on Behavior
- Genomics and Phylogenetic Studies
- Bioinformatics and Genomic Networks
- Alzheimer's disease research and treatments
- Genetic Syndromes and Imprinting
- Tryptophan and brain disorders
- Neuroendocrine regulation and behavior
- Molecular Biology Techniques and Applications
- RNA and protein synthesis mechanisms
- Mitochondrial Function and Pathology
- Ubiquitin and proteasome pathways
- Amyotrophic Lateral Sclerosis Research
- Diet and metabolism studies
- Receptor Mechanisms and Signaling
Agilent Technologies (Belgium)
2018-2025
University of Antwerp
2011-2024
VIB-UAntwerp Center for Molecular Neurology
2011-2024
Genomics (United Kingdom)
2021
University of Padua
2004-2016
Province of Antwerp
2016
Istituto Ortopedico Rizzoli
2016
Institut thématique Génétique, génomique et bioinformatique
2011-2015
Vlaams Instituut voor Biotechnologie
2003-2012
Bioengineering Center
2009
The hemolytic-uremic syndrome consists of the triad microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. common form is triggered by infection with Shiga toxin-producing bacteria has a favorable outcome. less syndrome, called atypical accounts for about 10% cases, patients this have poor prognosis. Approximately half mutations in genes that regulate complement system. Genetic factors remaining cases are unknown. We studied role thrombomodulin, an endothelial glycoprotein...
We assessed the impact of amyloid precursor protein (APP) gene locus duplications in early onset Alzheimer's disease a Dutch population-based sample. Using real-time PCR and an in-house-developed multiplex amplicon quantification assay, we identified genomic APP duplication 1 out 10 multigenerational families segregating disease. In this family, cerebral angiopathy (CAA) coincided with The duplicated region included no other genes than extended maximally over 0.7 Mb. sample 65 familial...
Paroxysmal exercise-induced dyskinesia (PED) can occur in isolation or association with epilepsy, but the genetic causes and pathophysiological mechanisms are still poorly understood. We performed a clinical evaluation analysis five-generation family co-occurrence of PED epilepsy (n = 39), suggesting that this combination represents entity. Based on whole genome linkage we screened SLC2A1, encoding glucose transporter blood-brain-barrier, GLUT1 identified heterozygous missense frameshift...
<h3>Importance</h3> About 20% to 30% of people with schizophrenia have psychotic symptoms that do not respond adequately first-line antipsychotic treatment. This clinical presentation, chronic and highly disabling, is known as<i>treatment-resistant schizophrenia</i>(TRS). The causes treatment resistance their relationships underlying are largely unknown. Adequately powered genetic studies TRS scarce because the difficulty in collecting data from well-characterized cohorts. <h3>Objective</h3>...
Technological improvements shifted sequencing from low-throughput, work-intensive, gel-based systems to high-throughput capillary systems. This resulted in a broad use of genomic resequencing identify sequence variations genes and regulatory, as well extended regions. We describe software package, novoSNP, that conscientiously discovers single nucleotide polymorphisms (SNPs) insertion-deletion (INDELs) trace files fast, reliable, user-friendly way. compared the performance novoSNP with...
A missense mutation in the neurofilament light chain gene (NEFL, NF-L) at chromosome 8p21 was recently reported a single Charcot-Marie-Tooth type 2 family (CMT2). This new CMT2 variant is designated CMT2E. The NEFL showed co-segregation with disease phenotype and thus most likely disease-causing mutation. However, possibility that it closely linked rare polymorphism can not be ruled out certainty. We observed novel second CMT family, providing supporting evidence CMT2E caused by mutations...
Severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) is a rare disorder occurring in young children often without family history similar disorder. The earliest disease manifestations are usually fever-associated seizures. Later life, patients display different types afebrile seizures including Arrest psychomotor development occurs the second year life and most become ataxic. Patients resistant to antiepileptic drug therapy. Recently, we described de novo mutations neuronal sodium...